I am an assistant professor in the Department of Computational Biology at the Carnegie Mellon University School of Computer Science. I study problems at the intersections of human genetics, statistics, quantitative psychology, and applied mathematics. My primary research interests include:
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Nonrandom mating and other forms of population structure, particularly how they impact inference about genetic architecture
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Scalable Bayesian inference and other methods for the efficient and flexible analysis and simulation of genome-wide data.
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Metascience, measurement, model misspecification, and sensitivity analysis.
Manuscripts under review
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Border, R., Wang, J., Caggiano, C., Sankararaman, S., Schork, A.J., Turley, P., Young, A.S., Benjamin, D.J., Dahl, A.W., Zaitlen, N.. “Simple models of non-random mating and environmental transmission bias standard human genetics statistical methods”. doi.org/10.1101/2024.10.16.618755
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Ma, S., Wang, F., Border, R., Buxbaum, J., Zaitlen, N., Ionita-Laza, I.. “Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating”.
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Fu, B., …, Border, R., …, Sankararaman, S.. “A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic epistasis". doi.org/10.1101/2023.09.10.557084
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Krebs, K.D., …, Border, R., …, Schork, A.J.. “The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory.” Out for review at the American Journal of Human Genetics.
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Medford, J., …, Border, R., …, Zaitlen, N.. “Beyond predictive R-squared: Complex relationships between traits and their corresponding polygenic scores are revealed using non-equivalence tests of quantile-specific linear models.” Invited for resubmission at the American Journal of Human Genetics.
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Sadowski, M., …, Border, R., …, Zaitlen, N.. “Genetics modulates the impact of widely-used drugs on outcomes and side effects.” Invited for resubmission at Cell Genomics. doi.org/10.1101/2024.03.29.24305093
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Tan, T., …, Border, R., …, Young, S.. “Family-GWAS reveals effects of environment and mating on genetic associations.” Out for review at Nature. doi.org/10.1101/2024.10.01.24314703
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Wei, A., Border, R., …, Arboleda, V.. “The genetic underpinnings of variable penetrance and expressivity of pathogenic mutations in cardiometabolic traits.” Invited for resubmission at Nature Communications. doi.org/10.1101/2023.09.14.23295564
Peer-reviewed publications
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Krebs, K.D., …, Border, R., …, Schork, A.J. (2024). “PA-FGRS is a novel estimator of pedigree-based genetic liability that complements genotype-based inferences into the genetic architecture of major depressive disorder.” Accepted in principle at the American Journal of Human Genetics.
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Dahl, A., …, Border, R., …, Cai, N. (2023). “Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder.” Nature Genetics.
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Border, R. and Malik, O.A. (2023). “rBahadur: efficient simulation of structured high-dimensional genotype data with applications to assortative mating.” BMC Bioinformatics.
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Border, R., Athanasiadis, G., Build, A., Schork, A., Cai, N., Young, A., Werge, T., Flint, J., Kendler, K., Sankararaman, S., Dahl, A., Zaitlen, N. (2022). “Cross-trait assortative mating is widespread and inflates genetic correlation estimates.” Science.
- Highlighted by Science, WIRED, and The Conversation.
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Jami, J.S., …, Border, R., …, Middeldorp, C.M. (2022). “Genome-wide association meta-analysis of childhood and adolescent internalising symptoms.” Journal of the American Academy of Child and Adolescent Psychiatry.
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Border, R., O’Rourke, S., de Candia, T., Goddard, M. E., Visscher, P. M., Yengo, L., Jones, M., Keller, M. C. (2022). “Assortative mating biases marker-based heritability estimates.” Nature Communications.
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Ip, H.F., …, Border, R., …, Boomsma, D. (2021). “Genetic association study of childhood aggression across raters, instruments and age.” Translational Psychiatry.
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Adjangba, C., Border, R., Romero, Villela P.N., Ehringer, M.A., Evans, L.M. (2021). “Little evidence of modified genetic effect of rs16969968 on heavy smoking based on age of onset of smoking.” Nicotine and Tobacco Research.
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Border, R. and Becker, S. (2019). “Stochastic Lanczos estimation of genomic variance components for linear mixed-effects models.” BMC Bioinformatics.
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Border, R., Johnson, E.C., Evans, L.M., Berley, N., Sullvan, P.F., Keller, M.C. (2019). “No support for historic candidate gene or candidate gene-by-interaction hypotheses for major depression across multiple large samples.” American Journal of Psychiatry.
- Highlighted by CBC and The Atlantic.
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Border, R., Johnson, E.C., Evans, L.M., Keller, M.C. (2019). “Measurement error cannot account for failed replications of historic candidate gene-by-environment hypotheses: response to Vrshek-Schallhorn et al..” American Journal of Psychiatry.
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Border, R., Smolen, A., Corley, R., Stallings, M., Brown, S., Conger, R., Derringer, J., Donnellan, B., Haberstick, B., Hewitt, J., Hopfer, C., Krauter, K., McQueen, M., Wall, T., Keller, M., Evans, L. (2019). “Imputation of behavioral candidate gene repeat polymorphisms in 486,551 publicly-available UK Biobank individuals.” European Journal of Human Genetics.
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Border, R., Corley, R.C., Brown, S.A., Hewitt, J.K., Hopfer, C.J., Williams, S.K., Rhea, S., Shriver, C.L., Stallings, M.C., Wall, T.L., Woodward, K.E., Rhee, S.H. (2018). “Independent predictors of mortality in adolescents ascertained for conduct disorder and substance use problems, their siblings, and community controls.” Addiction.
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Border, R., Corley, R.C., Brown, S.A., Hewitt, J.K., Hopfer, C.J., Stallings, M.C., Wall, T.L., Young, S.E., Rhee, S.H. (2018). “Predictors of adult outcomes in clinically- and legally-referred youth with antisocial behavior.” PLOS ONE.
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Johnson, E.C., Border, R., Melroy-Greif, W.E., de Leeuw, C., Ehringer, M.A., Keller, M.C. (2017). “No evidence that schizophrenia candidate genes are more associated with schizophrenia than non-candidate genes.” Biological Psychiatry.
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Border, R. and Keller, M.C. (2017). “Fundamental problems with candidate gene-by-environment interaction studies.” Journal of Child Psychology and Psychiatry.
Software
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Border, R. (2023). “xftsim: eXtensible Forward Time SIMulator.”
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Border, R. and Malik, O.A. (2022). “rBahadur: efficient simulation of genotype / phenotype data under assortative mating by generating Bahadur order-2 multivariate Bernoulli distributed random variates.”
Recent presentations
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Border, R.. “Simulation of complex phenogenetic architectures incorporating multivariate assortative mating, vertical transmission, cross-trait causal dependencies, and fine-scale population structure.” Talk presented at the 2023 Probabilistic Modeling in Genomics meeting.
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Wu, Y. and Border, R.. “Emerging topics in biobank-scale association analysis.” Co-moderator of platform-talk at the 2022 annual meeting of the American Society of Human Genetics.
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Border, R., Athanasiadis, G., Buil Demur, A., Schork, A., Cai, N., Young., A., Werge, T., Kendler, K., Flint, J., Dahl, A., Price, A., Zaitlen, N. (2022). “Quantifying the effects of high-dimensional cross-trait assortative mating on complex trait genetic architectures.” Reviewers’ Choice Abstract poster presented at the 2022 annual meeting of the American Society of Human Genetics.
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Border, R., Athanasiadis, G., Buil Demur, A., Schork, A., Werge, T., Kendler, K., Flint, J., Dahl, A., Zaitlen, N. (2021). “Widespread evidence of systematic bias in estimates of genetic correlation due to cross-trait assortative mating.” Plenary talk presented at the 2021 annual meeting of the American Society of Human Genetics.
Recent honors and awards
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Outstanding Mentorship Award. Bruins in Genomics Summer Research Program (2023).
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Reviewers’ Choice Abstract. American Society for Human Genetics (2022).
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Random Matrix Theory and Numerical Linear Algebra Conference Travel Award. National Science Foundation (2022).
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Charles J. Epstein Research Semifinalist Award. American Society for Human Genetics (2021).
Education
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Doctor of Philosophy (2019). Behavioral, Psychiatric, and Statistical Genetics. Advised by Matthew C. Keller. Department of Psychology and Neuroscience, University of Colorado Boulder.
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Master of Science (2018). Applied Mathematics. Advised by Stephen Becker. Department of Applied Mathematics, University of Colorado Boulder.
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Master of Arts (2018). Behavioral, Psychiatric, and Statistical Genetics. Advised by Soo Hyun Rhee. Department of Psychology and Neuroscience, University of Colorado Boulder (2018).
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Bachelor of Arts (2011). Japanese Language and Literature. Advised by Terry Kawashima. Department of East Asian Studies, Wesleyan University.